Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs750814369
rs750814369
ZNRD2 ; FAM89B ; ZNRD2-AS1
3 1.000 0.080 11 65570617 missense variant C/A;T snv 2.8E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs6940552
rs6940552
ZNRD1ASP
3 1.000 0.080 6 30044563 intron variant G/A snv 0.12 0.020 1.000 2 2015 2016
dbSNP: rs9261204
rs9261204
ZNRD1ASP
9 0.790 0.200 6 30037466 intron variant A/G snv 0.17 0.020 1.000 2 2015 2016
dbSNP: rs3757328
rs3757328
ZNRD1 ; ZNRD1ASP
6 0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2013 2013
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
14 0.752 0.320 22 41619761 intron variant C/T snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs16855458
rs16855458
XRCC5
2 0.925 0.120 2 216146098 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs80309960
rs80309960
XRCC5
4 0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs9288516
rs9288516
XRCC5
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.020 1.000 2 2012 2016
dbSNP: rs28383151
rs28383151
XRCC4
1 1.000 0.080 5 83111054 missense variant G/A snv 4.3E-04 5.0E-04 0.010 1.000 1 2013 2013
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.842 19 2009 2020
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.100 0.700 10 2009 2020
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.070 0.714 7 2009 2020
dbSNP: rs139599857
rs139599857
XRCC1
3 0.882 0.120 19 43545922 missense variant C/G snv 1.6E-05 2.1E-05 0.020 1.000 2 2013 2019
dbSNP: rs2293035
rs2293035
XRCC1
3 0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04 0.020 1.000 2 2013 2019
dbSNP: rs1214285376
rs1214285376
XRCC1
8 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs148611340
rs148611340
XRCC1
7 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs199613843
rs199613843
XRCC1
6 0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs200842482
rs200842482
XRCC1
4 0.851 0.120 19 43551592 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs2307181
rs2307181
XRCC1
4 0.851 0.120 19 43544170 synonymous variant G/A;C snv 6.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2307191
rs2307191
XRCC1
5 0.827 0.120 19 43553616 missense variant G/A snv 1.2E-03 4.8E-03 0.010 1.000 1 2014 2014